Canonical Allele Identifier: CA313415
Gene: CHRNA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204946
dbSNP Id: rs77710085
gnomAD v2: 8-27321215-C-T
gnomAD v3: 8-27463698-C-T
gnomAD v4: 8-27463698-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27463698C>T , CM000670.2:g.27463698C>T GRCh38
NC_000008.10:g.27321215C>T , CM000670.1:g.27321215C>T GRCh37
NC_000008.9:g.27377132C>T NCBI36
NG_015827.1:g.20599G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000407991.3:c.745G>A MANE Select ENSP00000385026.1:p.Ala249Thr
ENST00000637241.1:c.*575G>A ENSP00000490690.1:n.*575G>A
ENST00000240132.7:c.700G>A ENSP00000240132.2:p.Ala234Thr
ENST00000407991.2:c.745G>A ENSP00000385026.1:p.Ala249Thr
ENST00000520600.1:n.290-1944G>A
ENST00000520933.7:c.679G>A ENSP00000429616.2:p.Ala227Thr
ENST00000522008.1:n.475G>A
ENST00000523695.5:c.*147G>A ENSP00000430612.1:n.*147G>A
NM_000742.3:c.745G>A NP_000733.2:p.Ala249Thr
NM_001282455.1:c.700G>A NP_001269384.1:p.Ala234Thr
XM_005273397.1:c.268G>A XP_005273454.1:p.Ala90Thr
XM_006716282.1:c.745G>A XP_006716345.1:p.Ala249Thr
XM_011544388.1:c.745G>A XP_011542690.1:p.Ala249Thr
XM_011544389.1:c.151G>A XP_011542691.1:p.Ala51Thr
NM_001347705.1:c.268G>A NP_001334634.1:p.Ala90Thr
NM_001347706.1:c.268G>A NP_001334635.1:p.Ala90Thr
NM_001347707.1:c.151G>A NP_001334636.1:p.Ala51Thr
NM_001347708.1:c.151G>A NP_001334637.1:p.Ala51Thr
XM_011544389.2:c.151G>A XP_011542691.1:p.Ala51Thr
NM_000742.4:c.745G>A MANE Select NP_000733.2:p.Ala249Thr
NM_001282455.2:c.700G>A NP_001269384.1:p.Ala234Thr
NM_001347705.2:c.268G>A NP_001334634.1:p.Ala90Thr
NM_001347706.2:c.268G>A NP_001334635.1:p.Ala90Thr
NM_001347707.2:c.151G>A NP_001334636.1:p.Ala51Thr
NM_001347708.2:c.151G>A NP_001334637.1:p.Ala51Thr